{"orpha":611256,"name":"Pontocerebellar hypoplasia type 12","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["COASY-related pontocerebellar hypoplasia","PCH12"],"definition":"A lethal form of pontocerebellar hypoplasia characterized by prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-611256/","orphanet_url":"https://www.orpha.net/en/disease/detail/611256","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 12","synonyms":["HPC12","Hypoplasie pontocérébelleuse due à une mutation du gène COASY","PCH12"],"definition":"Forme létale d'hypoplasie pontocérébelleuse caractérisée par l'apparition prénatale d'une microcéphalie, d'une hypoplasie du cervelet, du tronc cérébral et de la moelle épinière, d'une dysmorphie craniofaciale à type de front fuyant et de micrognathie, et de multiples contractures. Une atrophie supratentorielle a également été rapportée."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 12","synonyms":["COASY-assoziierte pontozerebelläre Hypoplasie","PCH12"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 12","synonyms":["HPC12","Hipoplasia pontocerebelosa por una mutación en el gen COASY"],"definition":"Es una forma letal de hipoplasia pontocerebelosa caracterizada por el inicio prenatal de microcefalia, hipoplasia del cerebelo, del tronco encefálico y de la médula espinal, rasgos craneofaciales dismórficos como frente inclinada y micrognatia, y contracturas múltiples. También se ha descrito atrofia supratentorial."},"it":{"name":"Ipoplasia pontocerebellare tipo 12","synonyms":["Ipoplasia pontocerebellare correlata a COASY","PCH12"]},"nl":{"name":"Pontocerebellaire hypoplasie type 12","synonyms":["COASY-gerelateerde pontocerebellaire hypoplasie","PCH12"],"definition":"Een letale vorm van pontocerebellaire hypoplasie, gekenmerkt door prenatale aanvang van microcefalie, hypoplasie van cerebellum, hersenstam en ruggenmerg, dysmorfe craniofaciale kenmerken zoals hellend voorhoofd en micrognathie, en multipele contracturen. Supratentoriële atrofie werd ook reeds gerapporteerd."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 12","synonyms":["Hipoplasia pontocerebelosa COASY-relacionada","PCH12"],"definition":"Forma letal de hipoplasia pontocerebelar caracterizada por microcefalia de início pré-natal, hipoplasia do cerebelo, tronco cerebral e medula espinal, caraterísticas craniofaciais dismórficas, como testa inclinada e micrognatia, e contraturas múltiplas. Também tem sido reportada atrofia supratentorial."},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 12","synonyms":["COASY-related pontocerebellar hypoplasia","PCH12"],"definition":"Śmiertelna postać hipoplazji mostowo-móżdżkowej charakteryzująca się wystąpieniem małogłowia w okresie prenatalnym, hipoplazją móżdżku, pnia mózgu i rdzenia kręgowego, dysmorficznymi cechami twarzoczaszki (pochylone czoło, mikrognacja) oraz licznymi przykurczami. Zgłaszano także zanik nadnamiotowy."},"cs":{"name":"Pontocerebelární hypoplázie, typ 12","synonyms":["COASY-related pontocerebellar hypoplasia","PCH12"]},"uk":{"name":"Гіпоплазія мозочка, тип 12","synonyms":["Гіпоплазія мозочка, повязана з COASY","PCH12"],"definition":"A lethal form of pontocerebellar hypoplasia characterized by prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported."}},"xrefs":[{"source":"OMIM","code":"618266","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4748873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"COASY","name":"Coenzyme A synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30089828[PMID]_36495139[PMID]","hgnc":"29932","ensembl":"ENSG00000068120","omim":"609855","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"30089828[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30089828[PMID]_ORPHANET"}],"phenotypes":null}